Varaico: Literature-Extracted Genetic Variants

MGAM

494 papers

RefSeq Summary

This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of s...

Pfam Domains

Trefoilaa 90–133UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 164–329UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 370–726UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 734–821UCSCGlycosyl hydrolase family 31 C-terminal domain

Trefoilaa 957–999UCSCTrefoil (P-type) domain

Glyco_hydro_31_2ndaa 1236–1622UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Gene Aliases

HGNC Name

maltase-glucoamylase

HGNC Alias Name

alpha-glucosidase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_001365693.1

p.V643M

c.1927G>A

Surrounding Variants

1 paper

NM_001365693.1

p.V643L

c.1927G>T

1 paper

NM_001365693.1

p.P641S

c.1921C>T

9 papers

NM_001365693.1

p.E645K

c.1933G>A

1 paper

NM_001365693.1

p.E645Q

c.1933G>C

1 paper

NM_001365693.1

p.E645*

c.1933G>T

5 papers

NM_001365693.1

p.N647K

c.1941C>G

1 paper

NM_001365693.1

p.N647N

c.1941C>T

2 papers

NM_001365693.1

p.W638L

c.1913G>T

1 paper

NM_001365693.1

p.L648delFs

c.1943delT

1 paper

NM_001365693.1

p.R637S

c.1911A>C

1 paper

NM_001365693.1

p.R637S

c.1911A>T

1 paper

NM_001365693.1

p.R637T

c.1910G>C